Three novel variants in the coagulation factor V gene associated with deep venous thrombosis in Chilean patients with Amerindian ethnic background

2015 ◽  
Vol 444 ◽  
pp. 24-28 ◽  
Author(s):  
Neftalí Guzmán ◽  
Giovanni Larama ◽  
Andrés Ávila ◽  
Luis A. Salazar
Author(s):  
O. Mishcheniuk ◽  
◽  
O. Kostiukevych ◽  
L. Benkovska ◽  
O. Kravchenko ◽  
...  

Thrombosis triggers, in addition to «classic» risk factors (RFs) of cardiovascular events, includes the reactive changes of peripheral blood (RCPB), markers of the hereditary thrombophilia and radiation anamnesis. However, results of most studies suggest the «classic» RFs are able to neutralize the prothrombogenic potential of the hereditary thrombophilia and other, less powerful predictors of thrombosis. Objective: to determine the influence of the G1691A allele of the proaccelerin gene carrying to the thrombosis development, taking into account the vascular type of their occurrence, the presence of RFs in individuals with RCPB (reactive leukocytosis and thrombocytosis, and secondary erythrocytosis), as well as with and without radiation anamnesis. Material and methods. In general, it was analyzed the results of clinical and molecular-genetic data of 152 patients with RCPB, 19 patients had radiation anamnesis, 133 – did not have. The thrombotic complications were detected in 5 (26.31 %) of radiation-exposer patients and 25 (18.79 %) patients without radiation anamneses. The carrying of the G1691A allele proaccelerin gene (APG) (Leiden mutation (LM)) was detected using the allele-specific polymerase chain reaction. Results. The LM was found in 5.9 % (9 carriers) of the general cohort (GC) of RPBC patients. There were no difference in the LM frequency between the groups of patients with and without radiation anamnesis (р = 0.312). In the group of radiation-exposer patients (р = 0.017), as well as in the group without its (р = 0.031), venous thromboses only were more frequently in the LM carriers. In the presence of a radiation anamnesis, G1691A APG carriers with RFs have the higher frequency (р = 0.008) and the probability of the occurrence (relative risk [RR] = 25.00; CI 95 %: 1.56–399.68) of venous thrombosis. In the group without radiation anamnesis, the frequency of venues thrombosis in the LM carriers is higher in the younger age subgroup (р = 0.001), without RFs (p = 0.044) and without RFs under 60 years (р = 0.023). The risk of venous thrombosis in the G1691A APG carriers of the group without radiation anamnesis is 5.78 (95 % CI: 1.58–21.13). In LM carriers without radiation anamnesis and RFs, as well as under the 60 years of age, the probability of venous thrombosis was 6.85 (95 % CI: 1.86–25.22) and 19.40 (95 % CI: 4.64–81.09), respectively, and in the absence of both criteria – 9.57 (95 % CI: 2.49–36.73). Conclusions. In patients with and without radiation anamnesis, the risk of venues thrombosis are observed more often in carriers of LM. The carrying of the G1691A APG in patients with RPBC and without RA increased the risk of venues thrombosis development in subjects without FRs and below 60 years of age. In the radiation-exposure group, the frequency and the risk of venues thrombosis in the G1691A APG carriers was higher in the subgroup with RFs. It is probably due to the peculiarity of the samples, or prothrombogenic interaction between LM and radiation-associated endothelial damage. Key words: reactive changes of peripheral blood, the G1691A allele of the coagulation factor V gene, risk factor of thrombosis.


Rheumatology ◽  
1995 ◽  
Vol 35 (11) ◽  
pp. 1178-1180 ◽  
Author(s):  
A. GÜL ◽  
U. öZBEK ◽  
C. ÖZTÜRK ◽  
M. INANÇ ◽  
M. KONIÇE ◽  
...  

2006 ◽  
Vol 15 (2) ◽  
pp. 102-105
Author(s):  
Mehrez M. Jadaon ◽  
Ali A. Dashti ◽  
Hend L. Lewis

1991 ◽  
Vol 78 (2) ◽  
pp. 229-235 ◽  
Author(s):  
Marlene Mazzorana ◽  
Georges Baffet ◽  
Bernard Kneip ◽  
Bernard Launois ◽  
Christiane Guguen-Guillouzo

1995 ◽  
Vol 78 (3) ◽  
pp. 193-200 ◽  
Author(s):  
Maria I. Bokarewa ◽  
Katarina Bremme ◽  
Gunnar Falk ◽  
Margareta Sten-Linder ◽  
Nils Egberg ◽  
...  

1998 ◽  
Vol 13 (4) ◽  
pp. 195-198 ◽  
Author(s):  
Takafumi Seki ◽  
Hiroshi Okayama ◽  
Tomoko Kumagai ◽  
Norihisa Kumasaka ◽  
Masahito Sakuma ◽  
...  

1999 ◽  
Vol 14 (4) ◽  
pp. 357-357 ◽  
Author(s):  
H. Kostka ◽  
G. Siegert ◽  
S. Gehrisch ◽  
E. Kuhlisch ◽  
E. Runge ◽  
...  

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